Canonical Allele Identifier: CA2499225778

Gene: KCNB1

Linked Data

• ClinVar Variation Id: 1062047
• ClinVar RCV Id: RCV001371720
• dbSNP Id: rs2146811676

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49373087_49373088delinsAA , CM000682.2:g.49373087_49373088delinsAA	GRCh38
NC_000020.10:g.47989624_47989625delinsAA , CM000682.1:g.47989624_47989625delinsAA	GRCh37
NC_000020.9:g.47423031_47423032delinsAA	NCBI36
NG_041781.1:g.114557_114558delinsTT
NG_041781.2:g.114557_114558delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371741.6:c.2472_2473delinsTT MANE Select	ENSP00000360806.3:p.Pro825Ser
ENST00000635878.1:c.97-73705_97-73704delinsTT	ENSP00000489908.1:n.97-73705_97-73704delinsTT
ENST00000637131.1:c.16_17delinsTT
ENST00000637341.1:n.206+41063_206+41064delinsAA
ENST00000371741.5:c.2472_2473delinsTT	ENSP00000360806.3:p.Pro825Ser
ENST00000635465.1:c.2472_2473delinsTT	ENSP00000489193.1:p.Pro825Ser
NM_004975.2:c.2472_2473delinsTT	NP_004966.1:p.Pro825Ser
XM_006723784.2:c.2472_2473delinsTT	XP_006723847.1:p.Pro825Ser
XM_011528799.1:c.2472_2473delinsTT	XP_011527101.1:p.Pro825Ser
NM_004975.3:c.2472_2473delinsTT	NP_004966.1:p.Pro825Ser
XM_006723784.3:c.2472_2473delinsTT	XP_006723847.1:p.Pro825Ser
XM_011528799.2:c.2472_2473delinsTT	XP_011527101.1:p.Pro825Ser
XR_001754659.1:n.156+41063_156+41064delinsAA
NM_004975.4:c.2472_2473delinsTT MANE Select	NP_004966.1:p.Pro825Ser